-
1
-
-
50749115256
-
Progressive lenticular degeneration: A familial nervous disease associated with cirrhosis of the liver
-
Wilson SAK. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Lancet 1912; 1:1115-1119.
-
(1912)
Lancet
, vol.1
, pp. 1115-1119
-
-
Wilson, S.A.K.1
-
3
-
-
0036400025
-
Ceruloplasmin metabolism and function
-
Hellman N, Gitlin JD. Ceruloplasmin metabolism and function. Ann Rev Nutr 2002; 22: 439-458.
-
(2002)
Ann Rev Nutr
, vol.22
, pp. 439-458
-
-
Hellman, N.1
Gitlin, J.D.2
-
4
-
-
0036606750
-
Biochemical characterization and subcellular localization of human copper transporter 1 (hCTR1)
-
DOI 10.1042/BJ20011803
-
Klomp AE, Tops BB, van Denberg IE, Berger R, Klomp LW. Biochemical characterisation and subcellular localization of human copper transporter 1 (hCTR1). Biochem J 2002; 364: 497-505. (Pubitemid 34620810)
-
(2002)
Biochemical Journal
, vol.364
, Issue.2
, pp. 497-505
-
-
Klomp, A.E.M.1
Tops, B.B.J.2
Van Den Berg, I.E.T.3
Berger, R.4
Klomp, L.W.J.5
-
5
-
-
0029948054
-
A murine model of Menkes disease reveals a physiological function of metallothionein
-
Kelley EJ, Palmiter RJ. A murine model of Menkes disease reveals a physiological function of metallothionein. Nat Genet 1996; 13:219-222.
-
(1996)
Nat Genet
, vol.13
, pp. 219-222
-
-
Kelley, E.J.1
Palmiter, R.J.2
-
6
-
-
0033617578
-
Undetectable intracellular free copper: The requirement of a copper chaperone for superoxide dismutase
-
DOI 10.1126/science.284.5415.805
-
Rae T, Schmidt P, Pufahl R, Culotta VC, O'Halloran TV. Undetectable intracellular free copper: The requirement of a copper chaperone for superoxide dismutase. Science 1999; 284: 805-808. (Pubitemid 29291346)
-
(1999)
Science
, vol.284
, Issue.5415
, pp. 805-808
-
-
Rae, T.D.1
Schmidt, P.J.2
Pufahl, R.A.3
Culotta, V.C.4
O'Halloran, T.V.5
-
7
-
-
0032920935
-
Hepatocyte-specific localisation and copper-dependent trafficking of the Wilson's disease protein in the liver
-
Schaefer M, Hopkins R, Failla M, Gitlin JD. Hepatocyte-specific localisation and copper-dependent trafficking of the Wilson's disease protein in the liver. Am J Physiol 1999; 276: G639-G646.
-
(1999)
Am J Physiol
, vol.276
-
-
Schaefer, M.1
Hopkins, R.2
Failla, M.3
Gitlin, J.D.4
-
8
-
-
0027364961
-
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
-
DOI 10.1038/ng1293-344
-
Tanzi RE, Petrukhin K, Chernov I, Pellequer UL, Wasco W, et al. The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Nat Genet 1993; 5: 344-350. (Pubitemid 23351304)
-
(1993)
Nature Genetics
, vol.5
, Issue.4
, pp. 344-350
-
-
Tanzi, R.E.1
Petrukhin, K.2
Chernov, I.3
Pellequer, J.L.4
Wasco, W.5
Ross, B.6
Romano, D.M.7
Parano, E.8
Pavone, L.9
Brzustowicz, L.M.10
Devoto, M.11
Peppercorn, J.12
Bush, A.I.13
Sternlieb, I.14
Pirastu, M.15
Gusella, J.F.16
Evgrafov, O.17
Penchaszadeh, G.K.18
Gilliam, T.C.19
-
9
-
-
0027452091
-
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene
-
DOI 10.1038/ng1293-327
-
Bull Al, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to Menkes gene. Nat Genet 1993; 5: 327-337. (Pubitemid 23351302)
-
(1993)
Nature Genetics
, vol.5
, Issue.4
, pp. 327-337
-
-
Bull, P.C.1
Thomas, G.R.2
Rommens, J.M.3
Forbes, J.R.4
Cox, D.W.5
-
10
-
-
7244220246
-
The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: Results of a meta-analysis
-
Stapelbroek JM, Bollen CW, Ploos van Amstel JK, Erpecum KJ, et al. The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis. J Hepatol 2004; 41: 758-763.
-
(2004)
J Hepatol
, vol.41
, pp. 758-763
-
-
Stapelbroek, J.M.1
Bollen, C.W.2
Van Ploos Amstel, J.K.3
Erpecum, K.J.4
-
12
-
-
0033975764
-
The impact of apolipoprotein e genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease
-
SchiefermeierM,KolleggerH,MadlC,PolliC,OderW,etal. TheimpactofapolipoproteinEgenotypesonageatonsetofsymptomandphenotypicexpressi oninWilson'sdisease.Brain2000;123:585-590.(Pubitemid30099542)
-
(2000)
Brain
, vol.123
, Issue.3
, pp. 585-590
-
-
Schiefermeier, M.1
Kollegger, H.2
Madl, C.3
Polli, C.4
Oder, W.5
Kuhn, H.-J.6
Berr, F.7
Ferenci, P.8
-
13
-
-
0041784037
-
Akutní hemolytická krize se selháním jater jako první manifestace Morbus Wilson u deti
-
JandaJ,KotalováR,NevoralJ,ŠulákováT, SmíšekP.Akutníhemolytickákrizeseselhá nímjaterjakoprvnímanifestacemorbusWilsonudětí. ČsPediat1996;51:509-514.(Pubitemid126511788)
-
(1996)
Cesko-Slovenska Pediatrie
, vol.51
, Issue.8
, pp. 509-514
-
-
Janda, J.1
Kotalova, R.2
Nevoral, J.3
Sulakova, T.4
Smisek, P.5
-
14
-
-
0037566015
-
A practice guideline on Wilson disease
-
Roberts EA, Schilsky ML. A practice guideline on Wilson disease. Hematology 2003; 37: 1475-1492.
-
(2003)
Hematology
, vol.37
, pp. 1475-1492
-
-
Roberts, E.A.1
Schilsky, M.L.2
-
15
-
-
0037064351
-
Molekulární analýza Wilsonovy choroby
-
Vrábelová S, Váňová P, Kopečková L.Trunečka P, Šmolka V, et al. Molekulární analýza Wilsonovy choroby. Čas Lék čes 2002;141:642-645.
-
(2002)
Čas Lék Čes
, vol.141
, pp. 642-645
-
-
Vrábelová, S.1
Váňová, P.2
Kopečková, L.3
Trunečka, P.4
Šmolka, V.5
-
16
-
-
26244434931
-
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease
-
DOI 10.1016/j.ymgme.2005.05.004, PII S1096719205001617, ASHG 2005 Meeting Salt Lake City
-
Vrábelová S, Letocha O, Borský M, Kozák L. Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. Mol Genet Metab 2005; 86: 277-285. (Pubitemid 41412185)
-
(2005)
Molecular Genetics and Metabolism
, vol.86
, Issue.1-2
, pp. 277-285
-
-
Vrabelova, S.1
Letocha, O.2
Borsky, M.3
Kozak, L.4
-
17
-
-
42049097948
-
Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease
-
Gojová L, Jansová E, Külm M, Pouchlá S, Kozák L. Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease. Clin Genet 2008; 73: 441-452.
-
(2008)
Clin Genet
, vol.73
, pp. 441-452
-
-
Gojová, L.1
Jansová, E.2
Külm, M.3
Pouchlá, S.4
Kozák, L.5
-
18
-
-
0142029450
-
Diagnosis and phenotypic classification of Wilson disease
-
FerenciP,CacaK,LoudianosG,etal. DiagnosisandphenotypicclassificationofWilsondisease.Liver2003;23:139-142. (Pubitemid37265785)
-
(2003)
Liver International
, vol.23
, Issue.3
, pp. 139-142
-
-
Ferenci, P.1
Caca, K.2
Loudianos, G.3
Mieli-Vergani, G.4
Tanner, S.5
Sternlieb, I.6
Schilsky, M.7
Cox, D.8
Berr, F.9
-
19
-
-
63849343881
-
Systematic review: Clinical efficacy of chelator agents and zinc in the initial treatment of Wilson disease
-
Wiggelinkhuizen M, Tilanus MEC, Bollen CW, Houwen RHJ. Systematic review: clinical efficacy of chelator agents and zinc in the initial treatment of Wilson disease. Aliment Pharmacol Ther 2009; 29: 947-958.
-
(2009)
Aliment Pharmacol Ther
, vol.29
, pp. 947-958
-
-
Wiggelinkhuizen, M.1
Tilanus, M.E.C.2
Bollen, C.W.3
Houwen, R.H.J.4
-
20
-
-
33846234693
-
Revised King's College score for liver transplantation in adult patients with Wilson's disease
-
DOI 10.1002/lt.20920
-
Petrášek J, Jirsa M, Sped J, Kozák L.Taimr P, Špičák J, Filip K, Trunečka P. Revisited Kings's College score for liver transplantation in adult patients with Wilson's disease. Liver Transpl 2007;13:55-61. (Pubitemid 46099974)
-
(2007)
Liver Transplantation
, vol.13
, Issue.1
, pp. 55-61
-
-
Petrasek, J.1
Jirsa, M.2
Sperl, J.3
Kozak, L.4
Taimr, P.5
Spicak, J.6
Filip, K.7
Trunecka, P.8
-
21
-
-
0038772419
-
Liver transplantation for hepatic and neurological Wilson's disease
-
DOI 10.1016/S0041-1345(03)00464-0
-
Geissler I, Heinemann K, Rohm S, et al. Liver transplantation for hepatic and neurological Wilson's disease. Transplant Proc 2003; 35: 1445-1446. (Pubitemid 36765558)
-
(2003)
Transplantation Proceedings
, vol.35
, Issue.4
, pp. 1445-1446
-
-
Geissler, I.1
Heinemann, K.2
Rohm, S.3
Hauss, J.4
Lamesch, P.5
-
22
-
-
63849343881
-
Systematic review: Clinical efficacy of chelator agents and zinc in the initial treatment of Wilson disease
-
Wiggelinkhuizen M.Tilanus MEC, Bollen CW, Houwen RHJ. Systematic review: clinical efficacy of chelator agents and zinc in the initial treatment of Wilson disease. Aliment Pharmacol Ther 2009; 29: 947-958.
-
(2009)
Aliment Pharmacol Ther
, vol.29
, pp. 947-958
-
-
Wiggelinkhuizen, M.1
Tilanus, M.E.C.2
Bollen, C.W.3
Houwen, R.H.J.4
-
23
-
-
0032192556
-
Zinc treatment of Wilson's disease
-
Hoogenraad TU. Zinc treatment of Wilson's disease. J Lab Clin Med 1998; 132: 240-241.
-
(1998)
J Lab Clin Med
, vol.132
, pp. 240-241
-
-
Hoogenraad, T.U.1
-
24
-
-
0032191253
-
Treatment of Wilson's disease with zinc: XV Long-term follow-up studies
-
Brewer GJ, Dick RD, JohnsonVD, Brunberg JA, Kluin KJ, Fink JK. Treatment of Wilson's disease with zinc: XV Long-term follow-up studies. J Lab Clin Med 1998; 132: 264-278.
-
(1998)
J Lab Clin Med
, vol.132
, pp. 264-278
-
-
Brewer, G.J.1
Dick, R.D.2
Johnson, V.D.3
Brunberg, J.A.4
Kluin, K.J.5
Fink, J.K.6
-
26
-
-
33846024776
-
Clinical presentation, diagnosis and long-term outcome of Wilson's disease: A cohort study
-
DOI 10.1136/gut.2005.087262
-
Merle U, Schaefer M, Ferenci P, Stremmel W. Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study. Gut 2007; 56:115-120. (Pubitemid 46044897)
-
(2007)
Gut
, vol.56
, Issue.1
, pp. 115-120
-
-
Merle, U.1
Schaefer, M.2
Ferenci, P.3
Stremmel, W.4
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